E-LIB Suche - Ergebnisse für: Tardieu, Marine

1

Long‐term follow‐up of 64 children with classical infantile..:

Tardieu, Marine ; Cudejko, Céline ; Cano, Aline...
European Journal of Neurology. 30 (2023) 9 - p. 2828-2837 , 2023

Link: https://doi.org/10.1111/..

2

Individual and Family Determinants for Quality of Life in P..:

Ouattara, Abdoulaye ; Resseguier, Noemie ; Cano, Aline...
The Journal of Pediatrics. 254 (2023) - p. 39-47.e4 , 2023

Link: https://doi.org/10.1016/..

3

Sweet ending: When genetics prevent a dramatic CDG diagnost..:

Civit, Antoine ; Gueguen, Paul ; Blasco, Helene...
Clinica Chimica Acta. 551 (2023) - p. 117620 , 2023

Link: https://doi.org/10.1016/..

4

Newborn Screening of Primary Carnitine Deficiency: An Overv..:

Lefèvre, Charles R. ; Labarthe, François ; Dufour, Diane...
International Journal of Neonatal Screening. 9 (2023) 1 - p. 6 , 2023

Link: https://doi.org/10.3390/..

5

Aspartame and Phenylketonuria: an analysis of the daily phe..:

Maler, Victor ; Goetz, Violette ; Tardieu, Marine...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

Effect of alglucosidase alfa dosage on survival and walking..:

Ditters, Imke A.M. ; Huidekoper, Hidde H. ; Kruijshaar, Michelle E....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S39 , 2022

Link: https://doi.org/10.1016/..

7

Determinants of Quality of Life in Children with Inborn Err..:

Ouattara, Abdoulaye ; Resseguier, Noemie ; Cano, Aline...
The Journal of Pediatrics. 242 (2022) - p. 192-200.e3 , 2022

Link: https://doi.org/10.1016/..

8

Influence of early identification and therapy on long‐term ..:

Yverneau, Mathilde ; Leroux, Stéphanie ; Imbard, Apolline...
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 848-861 , 2022

Link: https://doi.org/10.1002/..

9

Recommended respiratory tests are not routinely performed f..:

Denamur, Sophie ; Touati, Guy ; Debelleix, Stéphane...
ERJ Open Research. 8 (2022) 1 - p. 00567-2021 , 2022

Link: https://doi.org/10.1183/..

10

Long term follow-up after haematopoietic stem cell transpla..:

Gardin, Antoine ; Castelle, Martin ; Pichard, Samia...
Bone Marrow Transplantation. 58 (2022) 3 - p. 295-302 , 2022

Link: https://doi.org/10.1038/..

11

The abnormal accumulation of heparan sulfate in patients wi..:

Chazeirat, Thibault ; Denamur, Sophie ; Bojarski, Krzysztof K....
Carbohydrate Polymers. 253 (2021) - p. 117261 , 2021

Link: https://doi.org/10.1016/..

12

Long‐term outcome of methylmalonic aciduria after kidney, l..:

Brassier, Anaïs ; Krug, Pauline ; Lacaille, Florence...
Journal of Inherited Metabolic Disease. 43 (2020) 2 - p. 234-243 , 2020

Link: https://doi.org/10.1002/..

13

Health Status of French Young Patients with Inborn Errors o..:

Cano, Aline ; Resseguier, Noemie ; Ouattara, Abdoulaye...
The Journal of Pediatrics. 220 (2020) - p. 184-192.e6 , 2020

Link: https://doi.org/10.1016/..

14

Consensus recommendations for diagnosis, management and tre..:

Germain, Dominique P. ; Fouilhoux, Alain ; Decramer, Stéphane...
Clinical Genetics. 96 (2019) 2 - p. 107-117 , 2019

Link: https://doi.org/10.1111/..

15

Long-term liver disease in methylmalonic and propionic acid..:

Imbard, Apolline ; Garcia Segarra, Nuria ; Tardieu, Marine...
Molecular Genetics and Metabolism. 123 (2018) 4 - p. 433-440 , 2018

Link: https://doi.org/10.1016/..